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Lista de obras de Beom Hee Lee

A phase 2 multi-center, open-label, switch-over trial to evaluate the safety and efficacy of Abcertin® in patients with type 1 Gaucher disease.

artículo científico publicado en 2015

Association between ARID2 and RAS-MAPK pathway in intellectual disability and short stature

scientific article published on 13 October 2020

Biochemical and molecular characterisation of neurological Wilson disease

artículo científico publicado en 2018

Chylous Manifestations and Management of Gorham-Stout Syndrome

artículo científico publicado en 2019

Clinical Application of Whole Exome Sequencing to Identify Rare but Remediable Neurologic Disorders

artículo científico publicado en 2020

Diagnostic performance of automated, streamlined, daily updated exome analysis in patients with neurodevelopmental delay

artículo científico publicado en 2022

Diagnostic yield and clinical utility of whole exome sequencing using an automated variant prioritization system, EVIDENCE

artículo científico publicado en 2020

Efficacy of Living Donor Liver Transplantation in Patients with Methylmalonic Acidemia

scientific article published in 2021

Fabry disease: characterisation of the plasma proteome pre- and post-enzyme replacement therapy

artículo científico publicado en 2017

Genotype and Phenotype Analysis in Pediatric Patients with Cystinuria

artículo científico publicado en 2017

Novel ATP8B1 Gene Mutations in a Child with Progressive Familial Intrahepatic Cholestasis Type 1

scientific article published on 11 September 2019

Pharmacologic properties of high-dose ambroxol in four patients with Gaucher disease and myoclonic epilepsy

scientific article published on 24 October 2019

Psychological Impact of Quarantine on Caregivers at a Children's Hospital for Contact with Case of COVID-19

artículo científico publicado en 2020

Severe form of neuroblastoma amplified sequence deficiency in an infant with recurrent acute liver failure

artículo científico publicado en 2018

The focal facial dermal dysplasias: phenotypic spectrum and molecular genetic heterogeneity

artículo científico publicado en 2017

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